Literature DB >> 3982639

Dystonia and calcification of the basal ganglia.

T A Larsen, H G Dunn, J E Jan, D B Calne.   

Abstract

We studied a family with dominantly inherited dystonia and intracranial calcification. Thirty-seven members were examined; 13 were affected by dystonia that was segmental in most patients, affecting especially the voice, face, neck, and limbs. Intracranial calcification involved the putamen, pallidum, cerebral white matter and cortex, and cerebellar nuclei. Several patients had both dystonia and calcification, but others had either dystonia or calcification alone.

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Year:  1985        PMID: 3982639     DOI: 10.1212/wnl.35.4.533

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  8 in total

1.  Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.

Authors:  Weiyi Mu; Laura Tochen; Caroline Bertsch; Harvey S Singer; Kristin W Barañano
Journal:  BMJ Case Rep       Date:  2019-05-27

2.  Acquired focal dystonia following recovery from central pontine myelinolysis.

Authors:  S T Grafton; F H Bahls; K R Bell
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-10       Impact factor: 10.154

Review 3.  The genetics of primary torsion dystonia.

Authors:  U Müller; K G Kupke
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

4.  Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

Authors:  D H Geschwind; M Loginov; J M Stern
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

Review 5.  Neuropathology in movement disorders.

Authors:  W R Gibb
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-06       Impact factor: 10.154

6.  Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.

Authors:  Manuel Glauco Carbone; Filippo Della Rocca
Journal:  Clin Neuropsychiatry       Date:  2022-04

Review 7.  The genetics of primary familial brain calcifications.

Authors:  Ana Westenberger; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2014-10       Impact factor: 5.081

8.  SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Authors:  Matt Baker; Audrey J Strongosky; Monica Y Sanchez-Contreras; Shan Yang; Will Ferguson; Donald B Calne; Susan Calne; A Jon Stoessl; Judith E Allanson; Daniel F Broderick; Michael L Hutton; Dennis W Dickson; Owen A Ross; Zbigniew K Wszolek; Rosa Rademakers
Journal:  Neurogenetics       Date:  2013-10-18       Impact factor: 2.660

  8 in total

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